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Literature Highlights

Diagnosis

July 2025

Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report

Lance H. Rodan, MD; Joan Stoler, MD, FAAP; Emily Chen, MD, PhD; Timothy Geleske, MD, FAAP;, the Council on Genetics

AAP now recommends genome/exome testing as Tier 1 priority for intellectual disability — a major development for FOXP1 diagnosis.

AAP Diagnosis Genetics Policy Whole Exome Sequencing
Read summary →
May 2021

Severe speech impairment is a distinguishing feature of FOXP1-related disorder

Ruth O Braden, David J Amori, Simon E Fisher, Cristina Mei, Candace T Muers, Heather Mefford, Deepak Gill, Siddharth Srivastava, Lindsay C Swanson, Himanshu Goel, Ingrid E Scheffer, Angela T Morgan

FOXP1-related disorder is characterized by prominent dysarthria, motor planning deficits, and phonological errors.

Clinical Research Diagnosis Dysarthria Language Speech
Read summary →
October 2018

Whole exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene

Mir Reza Bekheirnia, MD, FACMG (2018)

Whole exome sequencing identifies FOXP1 variants linked to congenital anomalies of the kidney and urinary tract.

Diagnosis Genetics Kidney Whole Exome Sequencing
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March 2018

FOXP1-related intellectual disability syndrome: a recognizable entity

Ilse Meerschaut, Daniel Rochefort, Nicole Revencu, Justine Petre, Christina Corsello, Guy A Rouleau (2017)

Clinical and genetic data from 48 individuals with FOXP1 variants documenting intellectual disability, language impairment and neuromotor delay.

Behavior Clinical Research Diagnosis Intellectual Disability Speech
Read summary →
October 2017

Prospective Investigation of FOXP1 Syndrome

Siper ET AL (2017)

A clinical study of nine children (ages 5-12) with FOXP1 syndrome evaluating ASD, language, motor skills and psychiatric features.

ASD Clinical Research Diagnosis Neurodevelopment
Read summary →
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